Spinal Muscular Atrophy (SMA) Subtype Concordance in Siblings: Findings From the Cure SMA Cohort

BACKGROUND: Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder caused by homozygous survival of motor neuron 1 (SMN1) gene disruption. Despite a genetic etiology, little is known about subtype concordance among siblings. OBJECTIVE: To investigate subtype concordance among...

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Detalles Bibliográficos
Autores principales: Jones, Cynthia C., Cook, Suzanne F., Jarecki, Jill, Belter, Lisa, Reyna, Sandra P., Staropoli, John, Farwell, Wildon, Hobby, Kenneth
Formato: Online Artículo Texto
Lenguaje:English
Publicado: IOS Press 2020
Materias:
Research Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7029365/
https://www.ncbi.nlm.nih.gov/pubmed/31707372
http://dx.doi.org/10.3233/JND-190399

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7029365/
https://www.ncbi.nlm.nih.gov/pubmed/31707372
http://dx.doi.org/10.3233/JND-190399

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